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Description
CTNS Polyclonal Antibody. ? Target Background: Cystinosis is an autosomal recessive disorder resulting from defective lysosomal transport of cystine and present at birth as a failure to thrive, rickets and proximal renal tubular acidosis. The human CTNS gene on chromosome 17p13 encodes the protein Cystinosin, and mutations in CTNS are responsible for nephropathic cystinosis. The CTNS promoter contains an Sp1 binding element. Cystinosin is an integral membrane protein containing 7 transmembrane domains that functions as a H+-driven transporte
Immunogen
KLH conjugated synthetic peptide derived from human CTNS/Cystinosin